Introduction

The overall aim of U-IMD is to promote health for children, adolescents and adults affected with rare inherited metabolic diseases (IMDs), enabling and empowering patients, wherever they live, to access the necessary expertise and services and promoting research on IMDs and the development of safe and efficacious new treatments.

For various reasons, including data protection, data quality, plausibility and case ascertainment as well as the challenge of administering large quantities of user accounts, access to the registry itself will not be direct for affected individuals with IMDs but mediated by the responsible treating clinics. However, patients can receive a print copy of their own data via the metabolic centre in charge, and the data model contains tools for capturing patient perspective that can be used by the patients directly.

U-IMD offers a module for capturing the patient's perspective, employing the PedsQL quality of life assessment which already exists as validated version in many languages and was chosen because of this feature. Moreover U-IMD is explicitly designed as a learning system capable of integrating additional tools as needed including tools that are more sensitive to variance resulting from social and cultural factors. Patients have a say in this through their patient advocacy groups that are organized in MetabERN and therefore are part of the U-IMD management structure.